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Diseases

Genetic and Rare Diseases Information Center (GARD)

Intrinsic factor deficiency


Other Names for this Disease
  • IFD
  • Pernicious anemia, congenital, due to defect of intrinsic factor
  • Congenital pernicious anemia due to defect of intrinsic factor
  • Intrinsic factor, congenital deficiency of
  • Congenital intrinsic factor deficiency
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Overview

Intrinsic factor deficiency is a rare condition that is characterized by pernicious anemia and neurological abnormalities. Most affected people develop signs and symptoms of the condition before age 5 years which may include failure to thrive and symptoms related to anemia (i.e. fatigue, pale skin, etc). Without early diagnosis and treatment, nervous system damage may occur which can be associated with confusion; depression; and numbness or tingling in the hands and/or feet.[1] Intrinsic factor deficiency is caused by changes (mutations) in the GIF gene and is inherited in an autosomal recessive manner.[2][3] Treatment generally consists of vitamin B12 injections.[1]
Last updated: 1/19/2016

References

  1. Paul Schick, MD. Pernicious Anemia. Medscape Reference. August 2015; http://emedicine.medscape.com/article/204930-overview.
  2. Congenital intrinsic factor deficiency. Orphanet. September 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332.
  3. INTRINSIC FACTOR DEFICIENCY. OMIM. May 2014; http://www.omim.org/entry/261000.
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Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Intrinsic factor deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • IFD
  • Pernicious anemia, congenital, due to defect of intrinsic factor
  • Congenital pernicious anemia due to defect of intrinsic factor
  • Intrinsic factor, congenital deficiency of
  • Congenital intrinsic factor deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.